ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.144+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics and Molecular Medicine, Faculty of Medicine, Zanjan University of Medical Sciences RCV003882767 SCV004030267 pathogenic Chorea-acanthocytosis criteria provided, single submitter clinical testing The homozygous variant was confirmed in the patient by Sanger sequencing, and both parents were heterozygous carriers of the c.144+1 G>C variant. The variant c.144+1G>C was predicted by ASSP, NNSplice, and Netgene2 to affect the wild-type donor splice site (tgccctgGTaggttt) at the end of exon 2. ASSP and NNSplice identified a cryptic donor site at position c.144+127 (gcaaaatGTaaattt) within intron 2, with scores of 8.225 and 0.57, respectively. This cryptic donor splice site may lead to the retention of 128 bp of intron 2 and, consequently, the occurrence of a premature stop codon.this variant was not detected in control databases such as the 1000G, EVS, ExAC, and dbSNP or in the literature. Additionally, this variant was absent in the Iranome database.

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